Researchers from dozens of institutions around the world, including the University of Virginia (UVA) School of Medicine, dubbed the GenomeAsia 100K Consortium, have released the results of their examination of the genomes of 1,739 people from 219 different population groups in 64 countries across Asia.
The findings from the group were released this week in the journal Nature and shed light on the history of human migration, as well as potentially improve clinicians’ ability to treat disease.
The GenomeAsia 100K Consortium derives its name from the stated goal to sequence the genomes of 100,000 people across Asia. These data would significantly improve the scope and quality of genetic information for these populations and will help medical researchers and doctors better screen, understand and treat genetic diseases. There is also a great potential to determine how patients will respond to drugs.
With currently more than 1 million fully sequenced human genomes, it might seem that human genetic information has been well documented. However, there has been one gaping blind spot that has existed, and that regards the lack of ethnic diversity in the worldwide genomic library.
However, the bulk of genomic data that exists today are derived from individuals of European ancestry. Because these individuals are closely related compared to other populations from around the world, if an individual non-European descent were to compare their genomic data to this library, information specific to their ethnic group would be lacking.
Additionally, there are many natural genetic mutations among and between different populations, which partly explains why certain populations of different ancestry seem to have a greater risk of certain diseases. Creating a detailed genomic reference databases for Asian populations can be a great benefit to researchers and patients in all human populations, particularly those with rare diseases in Asia.
“Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the human population is reduced,” said researcher Aakrosh Ratan, Ph.D., of UVA’s Department of Public Health Sciences. “The main goal of the project is to increase the number of people included in these genetic studies, primarily to boost our knowledge about medical genetics but also to understand human migration and human origins.”
One example of how having an adequate sub-library of Asian genomes was the ability to treat certain types of diabetes.
“MODY, which refers to maturity-onset diabetes of the young, [is] a rarer type of diabetes that usually develops before the age of 25, and often you do not require insulin,” Ratan said. “[Our study] showed…that if doctors wanted to treat patients in India with [suspected MODY], they would greatly benefit from having information about genetic mutations found in Indian populations to identify the genetic differences that could be causing the disease. If you only look in databases that contain mutation data from European individuals, you are more likely to see false-positive results, and you will find it harder to pinpoint the exact gene causing the disease.”
Not only does this research have the potential to shed light on the cause of diseases, but it will also help doctors better care for patients. For example, some groups may be more prone to an adverse reaction to a particular drug. Identifying the genes responsible could help doctors know which patient populations should be warned of their particular risk with that treatment.
“We also studied the genetic differences associated with an adverse reaction to several common drugs and were able to identify Asian populations that showed large variation in their response,” Ratan noted. “These reference databases are vital to predict or understand why some drugs should not be dispensed in certain dosages to people of certain populations.”
By increasing representation of the number of populations that can be searched for and researched on in the worldwide database of human genomes, and simply obtaining a more comprehensive library of the human genome, future scientists will hopefully also be able to better understand the genetics of disease in its entirety and be able to find treatments for patients that are truly personalized.